ErkrankungArachnodaktylie, kongenitale kontrakturale; Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Arachnodaktylie, kongenitale kontrakturale, mit zusammen genommen 31 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
AP9239
Anzahl Gene
31
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
8,8 kb (Core-/Basis-Gene)
114,1 kb (Erweitertes Panel)
114,1 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
Genpanel
Ausgewählte Gene
Name | Exon-Länge (bp) | OMIM-G | Erbgang |
---|---|---|---|
FBN2 | 8739 | AD | |
CBS | 1656 | AR | |
COL11A1 | 5421 | AD und/oder AR | |
COL11A2 | 5211 | AD und/oder AR | |
COL12A1 | 9192 | AD | |
COL2A1 | 4464 | AD | |
COL6A1 | 3087 | AD und/oder AR | |
COL6A2 | 3060 | AD und/oder AR | |
COL6A3 | 9534 | AD und/oder AR | |
COL9A1 | 2766 | AD und/oder AR | |
COL9A2 | 2070 | AD und/oder AR | |
COL9A3 | 2055 | AD und/oder AR | |
ECEL1 | 2328 | AR | |
FBN1 | 8616 | AD und/oder Mult | |
FKBP10 | 1749 | AR | |
MYBPC1 | 3516 | AD und/oder AR | |
MYH3 | 5823 | AD und/oder AR | |
MYH8 | 5814 | AD | |
NALCN | 5217 | AD und/oder AR | |
PIEZO2 | 8259 | AD und/oder AR | |
PLOD2 | 2277 | AR | |
SCARF2 | 2613 | AR | |
SMAD2 | 1404 | AD | |
SMAD3 | 1278 | AD | |
TGFB2 | 1245 | AD | |
TGFB3 | 1239 | AD | |
TGFBR1 | 1512 | AD | |
TGFBR2 | 1704 | AD | |
TNNI2 | 549 | AD | |
TNNT3 | 777 | AD | |
TPM2 | 855 | AD |
Infos zur Erkrankung
Synonyme
- Alias: Beals syndrome (FBN2)
- Alias: Congenital contractural arachnodactyly (FBN2)
- Allelic: Macular degeneration, early-onset (FBN2)
- Achondrogenesis, type II or hypochondrogenesis (COL2A1)
- Arthrogryposis, distal, type 1A (TPM2)
- Arthrogryposis, distal, type 1B (MYBPC1)
- Arthrogryposis, distal, type 2A [Freeman-Sheldon] (MYH3)
- Arthrogryposis, distal, type 2B1 (TNNI2)
- Arthrogryposis, distal, type 2B2 (TNNT3)
- Arthrogryposis, distal, type 2B3 [Sheldon-Hall] (MYH3)
- Arthrogryposis, distal, type 2B4 (TPM2)
- Arthrogryposis, distal, type 3 (PIEZO2)
- Arthrogryposis, distal, type 5 (PIEZO2)
- Arthrogryposis, distal, type 5D Arthrogryposis, distal, type 5D (ECEL1)
- Arthrogryposis, distal, with impaired proprioception a+ touch (PIEZO2)
- Bethlem myopathy 1 (COL6A1, COL6A2, COL6A3)
- Bethlem myopathy 2 (COL12A1)
- Boudin-Mortier syndrome (NPR3)
- Bruck syndrome 1 (FKBP10)
- Bruck syndrome 2 (PLOD2)
- Congenital contractures of the limbs + face, hypotonia + developmental delay (NALCN)
- Contractural arachnodactyly, congenital (FBN2)
- Contractures, pterygia + spondylocarpostarsal fusion syndrome 1A (MYH3)
- Contractures, pterygia + spondylocarpotarsal fusion syndrome 1B (MYH3)
- Czech dysplasia (COL2A1)
- Epiphyseal dysplasia, multiple, 2 (COL9A2)
- Epiphyseal dysplasia, multiple, 3, with/-out myopathy (COL9A3)
- Epiphyseal dysplasia, multiple, 6 (COL9A1)
- Epiphyseal dysplasia, multiple, with myopia + deafness (COL2A1)
- Fibrochondrogenesis 1 (COL11A1)
- Fibrochondrogenesis 2 (COL11A2)
- Homocystinuria, B6-responsive + nonresponsive types (CBS)
- Kniest dysplasia (COL2A1)
- Legg-Calve-Perthes disease (COL2A1)
- Lethal congenital contracture syndrome 4 (MYBPC1)
- Loeys-Dietz syndrome 1 (TGFBR1)
- Loeys-Dietz syndrome 2 (TGFBR2)
- Loeys-Dietz syndrome 3 (SMAD3)
- Loeys-Dietz syndrome 4 (TGFB2)
- Loeys-Dietz syndrome 5 (TGFB3)
- Loeys-Dietz syndrome [MONDO:0018954] (SMAD2)
- MASS syndrome (FBN1)
- Marden-Walker syndrome (PIEZO2)
- Marfan syndrome (FBN1)
- Marshall syndrome (COL11A1)
- Myosclerosis, congenital (COL6A2)
- Osteogenesis imperfecta, type XI (FKBP10)
- Otospondylomegaepiphyseal dysplasia, AD + AR (COL11A2)
- Platyspondylic skeletal dysplasia, Torrance type (COL2A1)
- SED congenita (COL2A1)
- SMED Strudwick type (COL2A1)
- Spondyloepiphyseal dysplasia, Stanescu type (COL2A1)
- Spondyloperipheral dysplasia (COL2A1)
- Stickler syndrome, type I (COL2A1)
- Stickler syndrome, type II (COL11A1)
- Stickler syndrome, type IV (COL9A1)
- Stickler syndrome, type V (COL9A2)
- Trismus-pseudocamptodactyly syndrome (MYH8)
- Ullrich congenital muscular dystrophy 1 (COL6A1, COL6A2, COL6A3)
- Ullrich congenital muscular dystrophy 2 (COL12A1)
- Van den Ende-Gupta syndrome (SCARF2)
Erbgänge, Vererbungsmuster etc.
- AD
- AD und/oder AR
- AD und/oder Mult
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Q68.8
Bioinformatik und klinische Interpretation
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